Expanding the clinical features of autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation by description of a novel patient
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DOI: 10.1111/jdv.15918
Abstract: Autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation (APLAID) is an exceedingly rare monogenic autoinflammatory disease. To date, only five cases have been reported with four distinct pathogenic mutations. read more here.
Keywords: deficiency immune; associated antibody; antibody deficiency; immune dysregulation ... See more keywords